What are the signs and Symptoms of Fanconi Anemia?

Major Signs and Symptoms

FA is an inherited disorder—that is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder.

Anemia

The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities.

Bone Marrow Failure

When your bone marrow fails, it can't make enough red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms.

With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for the cells to work well.

With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal.

With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots.

In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough normal blood cells.

A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML).

Birth Defects

Many birth defects can be signs of FA. These include:

Bone or skeletal defects. FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. People who have FA may have a curved spine, a condition called scoliosis (sco-le-O-sis).

Eye and ear defects. The eyes, eyelids, and ears may not have a normal shape. Children who have FA also might be born deaf.

Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin.

Kidney problems. A child who has FA might be born with a missing kidney or kidneys that aren't shaped normally.